Misdiagnosed Early Signs Of Myasthenia Gravis

Prognosis for myasthenia gravis looks better than ever due to increased awareness and clinical research coming up with novel treatments. MG-related mortality has dropped from 70% at the beginning of the 20th century to 3-5% today and people with MG generally have the same life expectancy as everyone else. Thanks to improving treatments, many go on to live long happy lives with no significantly reduced quality of life.

Early diagnosis, as with everything else, is better for the long-term treatment of the disease, especially in some cases. And diagnosis is easy enough when the patient consistently displays the typical symptoms of MG.

However, this is not always the case. Though medical professionals are becoming increasingly more aware of subtle early signs, MG can be confused for a number of other neurological diseases. Patients can overlook early signs and doctors can misinterpret them because muscle weakness is almost never consistent enough to constitute an immediate diagnosis.

What’s more, some people experience atypical symptoms, meaning that they may not display characteristic signs of MG, while displaying others that may yield all sorts of other explanations. Muscle weakness can pass for post-workout fatigue if the patient is physically active, double vision can be read as a sign of eye disease and so on.

Health care providers are becoming increasingly better at asking the right questions and testing for lesser-known issues but it’s up to you as the patient to be aware of any new discomfort you might be experiencing and even demand to be tested if you suspect you might have MG. Since many of the earliest signs can be overlooked, we at FindMeCure want you to stay aware and observe anything atypical that might be a reason for concern. So here are some early signs to keep in mind if you have any doubts.

Drooping eyelid or ptosis is the most commonly associated with MG symptom, however, not one of the easiest to spot. Ptosis can last only a few seconds, it can visibly affect only one of the eyelids, it can come and go, be most prominent when the eyes are tired (usually in the evening) or it can be not present at all. A drooping eyelid is the first early sign of MG to appear in most patients but some people with MG never experience it at all. For others still, it can manifest later on when other symptoms have been present for some time.

“Initially I had lid drooping with years of misdiagnosis and lid lift surgery which never actually helped. The lid surgeon sent me to the ophthalmologist believing I had MG. My lid gets very low at the end of the day and I can notice double vision.”, says Wlm about her diagnosis journey.

Another patient with a drooping lid was tested for multiple sclerosis for some time before changing neurologists. MG can indeed often mimic MS – tingling arms and legs, general fatigue, slurred speech – all of these symptoms can be attributed to the deterioration caused by MS. However, a trained professional should never rule out MG when vision-related issues are persistent.

Lid retraction is not typically associated with myasthenia gravis but it can be a giveaway symptom of the disease, according to Suzann Beaupark. Prolonged upgaze can lead to a temporary retraction of the upper eyelid, whereas a retraction in one part of the lid can be present if there is drooping opposite that side. A twitch of the upper lid (Cogan’s lid twitch) when looking up from a sustained downward gaze can be a sign of ocular MG. Testing for CLT has a high degree of accuracy but is not 100% indicative of myasthenia gravis and other tests need to be done to be sure.

Since upper lid retraction can also signify thyroid eye disease, none of those symptoms in and of themselves can be considered as indicators. However, if any of them is present, MG should be considered a possibility.

Coupled with double or blurry vision, eyelid retraction or drooping should be taken seriously. “I have also had double vision, usually upon waking up but have also had it when awake. It is sometimes blurry. My eyes feel tired a lot. It’s hard to explain but in addition to feeling tired they feel like they are ready to pop out of my head.”, is how FightforJoy explains the problems he experiences with his vision.

For some people, however, eye-related issues are not among the first signs they report. Kathy is one of those patients for whom MG first manifests in relation to eating. She reports trouble swallowing and frequently choking on her food. Since MG affects the muscles responsible for voluntary action, meaning those we move at will, technically it can show up at any part of the body.

The complaints that most health care providers link to MG, however, often begin in the muscles around the eyes and those needed for chewing, swallowing and speaking. In cases when myasthenia begins in the mouth and throat, other symptoms can be present as well – slurred speech with nasal quality, drooling, difficulty smiling or twitching of the lips.

Some of those symptoms, however, especially if unaccompanied by other strongly associated with MG, and if present in elderly people can be mistakenly taken as signs of a stroke. In those cases, it’s even more important to consider myasthenia gravis as a possible diagnosis and to insist on the necessary testing, because undue treatment for stroke can be life-threatening as can be a lack of treatment for MG.

Apart from difficulty adopting or maintaining facial expressions, keeping the mouth closed or the head up, muscle weakness can affect other areas of the body as well. However, when fatigue or restricted mobility affects the arms and the legs, misdiagnosing MG gets a bit more complicated.

For one thing, MG doesn’t typically begin with weakness from the neck down – it can ‘stay’ in the muscles around the eyes in about 20% of patients (ocular myasthenia) but it can spread throughout the whole body with different intensity in different areas. It rarely begins in the arms or the legs, however, if the most prominent symptoms have to do with difficulty walking, washing dishes, standing up, brushing teeth, holding and lifting objects, another type of myasthenia might be behind the symptoms.

Lambert-Eaton Myasthenic Syndrome or LEMS typically begins in the upper legs and hips, arms and shoulders, with MG-like symptoms related to weakness of the eye muscles as well as the facial muscles and those of the throat and jaw.

Going only by symptoms, it can be easy to confuse the two but a trained professional knows the difference, so it’s important to refrain from self-diagnosing and instead suggest additional tests if you have your concerns. A timely diagnosis is crucial, as in 50-60% of the cases LEMS is linked to underlying small cell lung cancer and receiving treatment as soon as possible can be life-saving.  

Since MG can cause general fatigue, feeling tired and sluggish or achy as if you overworked a muscle group in the gym, be especially mindful if you workout regularly and no other symptoms are present. Do you experience unusual shortness of breath? Do fatigue and shallow breathing worsen over the course of the day? As weakened muscles get continuously over-exerted, both pain and exhaustion increase.

Another autoimmune disease when you experience one or more of the other symptoms listed here should be a red flag. Though MG doesn’t always coexist with other autoimmune diseases and no previous history of autoimmunity is required to diagnose myasthenia, if you already have an autoimmune disease and you suddenly start to experience one or more of the symptoms listed above it won’t be the worst idea to ask for MG testing.

If this is your case, you must be so familiar with your usual symptoms that you can set them apart from the new ones. Even if MG is not the answer to any of the complaints listed here, it might be a new development in your ‘older’ autoimmune issues, so you should inform your primary health provider of any such concerns.

Myasthenia gravis can be managed with medicine and in some cases – surgery, though research results need to be more conclusive in future trials. Thanks to modern-day and emerging medicine, quality of life can be preserved if the right treatment is found.

Promising new drugs are being developed as we speak and if you want to have access to them before they’re widely available, you can search recruiting clinical trials on FindMeCure.